Gene Gene information from NCBI Gene database.
Entrez ID 5981
Gene name Replication factor C subunit 1
Gene symbol RFC1
Synonyms (NCBI Gene)
A1CANVASMHCBFBPO-GARECC1RFCRFC140
Chromosome 4
Chromosome location 4p14
Summary This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, bi
miRNA miRNA information provided by mirtarbase database.
197
miRTarBase ID miRNA Experiments Reference
MIRT046779 hsa-miR-222-3p CLASH 23622248
MIRT042834 hsa-miR-324-3p CLASH 23622248
MIRT439781 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439781 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1301486 hsa-let-7a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0003689 Function DNA clamp loader activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102579 9969 ENSG00000035928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35251
Protein name Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C
Protein function Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA
PDB 2EBU , 2K6G , 2K7F , 6VVO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00533 BRCT 402 479 BRCA1 C Terminus (BRCT) domain Family
PF00004 AAA 647 776 ATPase family associated with various cellular activities (AAA) Domain
PF08519 RFC1 915 1068 Replication factor RFC1 C terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Wide tissue distribution. Undetectable in placental tissue.
Sequence
MDIRKFFGVIPSGKKLVSETVKKNEKTKSDEETLKAKKGIKEIKVNSSRKEDDFKQKQPS
KKKRIIYDSDSESEETLQVKNAKKPPEKLPVSSKPGKISRQDPVTYISETDEEDDFMCKK
AASKSKENGRSTNSHLGTSNMKKNEENTKTKNKPLSPIKLTPTSVLDYFGTGSVQRSNKK
MVASKRKELSQNTDESGLNDEAIAKQLQLDEDAELERQLHEDEEFARTLAMLDEEPKTKK
ARKDTEAGETFSSVQANLSKAEKHKYPHKVKTAQVSDERKSYSPRKQSKYESSKESQQHS
KSSADKIGEVSSPKASSKLAIMKRKEESSYKEIEPVASKRKENAIKLKGETKTPKKTKSS
PAKKESVSPEDSEKKRTNYQAYRSYLNREGPKALGSKEIPKGAENCLEGLIFVITGVLES
IERDEAKSLIERYGGKVTGNVSKKTNYLVMGRDSGQSKSDKAAALGTKIIDEDGLLNLI
R
TMPGKKSKYEIAVETEMKKESKLERTPQKNVQGKRKISPSKKESESKKSRPTSKRDSLAK
TIKKETDVFWKSLDFKEQVAEETSGDSKARNLADDSSENKVENLLWVDKYKPTSLKTIIG
QQGDQSCANKLLRWLRNWQKSSSEDKKHAAKFGKFSGKDDGSSFKAALLSGPPGVGKTTT
ASLVCQELGYSYVELNASDTRSKSSLKAIVAESLNNTSIKGFYSNGAASSVSTKHALIMD
EVDGMAGNEDRGGIQELIGLIKHTKIPIICMCNDRNHPKIRSLVHYCFDLRFQRPR
VEQI
KGAMMSIAFKEGLKIPPPAMNEIILGANQDIRQVLHNLSMWCARSKALTYDQAKADSHRA
KKDIKMGPFDVARKVFAAGEETAHMSLVDKSDLFFHDYSIAPLFVQENYIHVKPVAAGGD
MKKHLMLLSRAADSICDGDLVDSQIRSKQNWSLLPAQAIYASVLPGELMRGYMTQFPTFP
SWLGKHSSTGKHDRIVQDLALHMSLRTYSSKRTVNMDYLSLLRDALVQPLTSQGVDGVQD
VVALMDTYYLMKEDFENIMEISSWGGKPSPFSKLDPKVKAAFTRAYNK
EAHLTPYSLQAI
KASRHSTSPSLDSEYNEELNEDDSQSDEKDQDAIETDAMIKKKTKSSKPSKPEKDKEPRK
GKGKSSKK
Sequence length 1148
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
  Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Polymerase switching on the C-strand of the telomere
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Polymerase switching
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Likely pathogenic; Pathogenic rs2600447, rs1035947105, rs2475602035, rs2475515249, rs2475507533 RCV002280370
RCV003324872
RCV003324873
RCV003324874
RCV003324875
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs17288820 RCV005904730
Colon adenocarcinoma Benign rs17288820 RCV005904729
Gastric cancer Benign rs17288820 RCV005904731
Hereditary breast ovarian cancer syndrome Uncertain significance rs2109618140 RCV001374549
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 19353223
Alopecia Associate 25599563
Amyotrophic lateral sclerosis 1 Associate 34537679
Arthritis Rheumatoid Associate 25599563
Ataxia Associate 32910249, 33495376, 33884451, 35001451, 35864213, 37578187, 38487929
Ataxia and Polyneuropathy Adult Onset Associate 35864213
Atrophy Associate 34927205
Autistic Disorder Associate 20468076
Benign Paroxysmal Positional Vertigo Associate 35502508, 38381176
Bilateral Vestibulopathy Associate 30926972, 33884451, 33969391, 35502508, 36805468, 37460231, 38381176